Prevalence and impact of endocrinopathies on growth in pediatric down syndrome patients: A retrospective analysis

Ahmed M. Al Qassimi; Rayan A. Al Marzooq; Lena H. Alfaraj; Nafisah M. Al Radhwan; Zainab A. Al-Askari; Ahmed S. AlKhalifah

doi:10.15537/smj.2025.46.4.20241117

Article Figures & Data

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Table 1

- Baseline features of patients with Down syndrome.

Characteristic	Median (IQR)
Age (months)	72.00 (23.00-135.00)
Current height (cm)	102.00 (82.00-130.00)
Current weight (kg)	17.00 (10.00-35.00)
Body mass index (kg/m²)	16.76 (14.18-20.90)
Height Z-score	-2.0 (-3.0--1.0)
Weight Z-score	-1.0 (-2.5-0.0)
Body mass index Z-score	-1.0 (-2.0-0.5)
Birth height (cm)	49.00 (48.00-50.00)
Birth weight (kg)	2.90 (2.50-3.15)
Gestational age (weeks)	38.00 (38.00 - 38.00)
Endocrinology follow-up per year	1.00 (1.00 - 1.00)
	n (%)
Gender (male)	136 (52.5%)
Saudi nationality	245 (94.6%)
Consanguinity between parents
None	20 (7.7%)
First degree	7 (2.7%)
Second degree	4 (1.54%)
Unknown	228 (88.0%)
Family history of Down syndrome
True	249 (96.1%)
False	10 (3.9%)
Family history of endocrinopathies
True	252 (97.3%)
False	7 (2.7%)

IQR: interquartile range

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Table 2

- Associations with hypothyroidism (n=49).

Variable	True n (%)	False n (%)	P-value
Consanguinity between parents	5 (45.45%)	44 (17.74%)	0.037
Family history of endocrinopathies	4 (57.14%)	45 (17.86%)	0.026
Vitamin D deficiency	18 (45%)	31 (14.16%)	<0.001
Dyslipidemia	3 (75%)	46 (18.04%)	0.022
Thyroid peroxidase antibodies	2 (100%)	47 (18.29%)	0.035
Obesity according to body mass index	12 (37.5%)	37 (16.3%)	0.009

The percentages in the table represent the proportion of Down syndrome (DS) children within each condition who have hypothyroidism (True) compared to those without hypothyroidism (False). Each percentage is calculated within the corresponding row category. For example, 45% of DS children with vitamin D deficiency had hypothyroidism, while only 14.16% of those without vitamin D deficiency had hypothyroidism.

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Table 3

- Associations with vitamin D deficiency (n=40).

Variable	True n (%)	False n (%)	P-value
Hypothyroidism	18 (36.73%)	22 (10.48%)	<0.001
Acquired hypothyroidism	8 (57.14%)	32 (13.06%)	<0.001
Developmental delay	8 (44.44%)	32 (13.28%)	0.002
Intellectual disability	8 (40%)	32 (13.39%)	0.005
Obstructive sleep apnea	4 (57.14%)	36 (14.29%)	0.012
IgA deficiency	2 (100%)	38 (14.79%)	0.023

The percentages in the table represent the proportion of down syndrome (DS) children within each condition who have vitamin D deficiency (True) compared to those without deficiency (False). Each percentage is calculated within the corresponding row category. For example, 36.73% of DS children with hypothyroidism had vitamin D deficiency, while only 10.48% of DS children without hypothyroidism had vitamin D deficiency.

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Table 4

- Significant variables affecting growth (Z-scores)

Variable	True: Median (interquartile)	False: Median (interquartile)	P-value
Weight Z-score
Obesity, according to body mass index (BMI)	0.75 (-0.5-1.5)	-1 (-2.0-0.0)	<0.001
Subclinical hypothyroidism	0 (-1.5-0.625)	-1 (-2.0-0.0)	0.027
Acquired hypothyroidism	0.25 (-0.375-1.0)	-1 (-2.0-0.0)	0.004
All hypothyroidism	0 (-1.0-1.0)	-1 (-2.0-0.0)	<0.001
Vitamin D deficiency	0 (-1.0-0.5)	-1 (-2.0-0.0)	<0.001
Obstructive sleep apnea	0 (0.0-0.5)	-1 (-2.0-0.0)	0.011
Congenital heart defects	-1.5 (-2.0-0.0)	-0.5 (-2.0-0.0)	0.022
Height Z-score
Obesity according to BMI	-2 (-2.0--1.38)	-1.5 (-2.0-0.0)	<0.001
BMI Z-score
Obesity according to BMI	2 (2.0-2.0)	0 (-2.0-0.5)	<0.001
Subclinical hypothyroidism	1 (-0.125-2.0)	0 (-1.5-1.0)	0.002
Acquired hypothyroidism	1.5 (1.0-1.5)	0 (-1.5-1.0)	0.004
All hypothyroidism	1 (0.0-1.5)	0 (-2.0-1.0)	<0.001
Vitamin D deficiency	0.5 (0.0-1.5)	0 (-2.0-1.0)	<0.001
Obstructive sleep apnea	1 (0.75-1.5)	0 (-1.5-1.0)	0.016
Gastrointestinal structural abnormalities	-1.5 (-2.0-0.0)	0 (-1.5-1.0)	0.039
Family history of endocrinopathies	1.5 (0.75-2.0)	0 (-1.5-1.0)	0.036